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Summary: Scientists discovered a new metabolic disease caused by the genetic mutation of an enzyme that processes Vitamin B12 (also called cobalamin). Cobalamin is involved in making DNA and red blood cells and maintaining the health of nerve cells. Those with the disease are born with what seems like B12 deficiency (caused by a cobalamin c mutation and thus called cblC) but have more severe symptoms such as developmental delay, epilepsy, anemia, stroke, psychosis, and dementia. The disease was discovered using next generation genetic sequencing and is called cobalamin X or cblX (since the mutation is on the X chromosome). Although there is no cure now, doctors can look forward to a cure in the future and to not misdiagnosing children with B12 deficiency.

Think About:

1. How has genetic technology helped us discover and treat diseases?
2. How does the use of genetic technology change the approach to medicine?
3. How are genetic counselors affected by efficient use of genetic technology?
4. Will there be prenatal screening for cblX (cobalamin X)?
5. Think about how cblX patients should be treated by doctors and scientists who are studying their disease with little hope for a cure in their lifetimes.


For More Information:

- Original Article:
- Vitamin B12 (Cobalamin):
- Next Generation Sequencing: